Two novel pathogenic variants in MED13L: one familial and one isolated case (2021)
- Authors:
- USP affiliated authors: KAUFMAN, ARTHUR - FM ; BERTOLA, DÉBORA ROMEO - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; KOIFFMANN, CELIA PRISZKULNIK - IB ; ROSENBERG, CARLA - IB ; CARVALHO, LAURA MACHADO LARA - IB
- Unidades: FM; IB
- DOI: 10.1111/jir.12891
- Subjects: PESSOAS COM DEFICIÊNCIA INTELECTUAL; GENES
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: West Sussex
- Date published: 2021
- Source:
- Título: Journal of Intellectual Disability Research
- ISSN: 1365-2788
- Volume/Número/Paginação/Ano: v. 65, n. 12, p. 1049-1057, 2021
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
CARVALHO, L. M. L et al. Two novel pathogenic variants in MED13L: one familial and one isolated case. Journal of Intellectual Disability Research, v. 65, n. 12, p. 1049-1057, 2021Tradução . . Disponível em: https://doi.org/10.1111/jir.12891. Acesso em: 28 dez. 2025. -
APA
Carvalho, L. M. L., Costa, S. S. da, Campagnari, F., Kaufman, A., Bertola, D. R., Silva, I. T. da, et al. (2021). Two novel pathogenic variants in MED13L: one familial and one isolated case. Journal of Intellectual Disability Research, 65( 12), 1049-1057. doi:10.1111/jir.12891 -
NLM
Carvalho LML, Costa SS da, Campagnari F, Kaufman A, Bertola DR, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. Two novel pathogenic variants in MED13L: one familial and one isolated case [Internet]. Journal of Intellectual Disability Research. 2021 ; 65( 12): 1049-1057.[citado 2025 dez. 28 ] Available from: https://doi.org/10.1111/jir.12891 -
Vancouver
Carvalho LML, Costa SS da, Campagnari F, Kaufman A, Bertola DR, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. Two novel pathogenic variants in MED13L: one familial and one isolated case [Internet]. Journal of Intellectual Disability Research. 2021 ; 65( 12): 1049-1057.[citado 2025 dez. 28 ] Available from: https://doi.org/10.1111/jir.12891 - A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review
- A comprehensive review of syndromic forms of obesity: genetic etiology, clinical features and molecular diagnosis
- ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability
- SCAF4-related syndromic intellectual disability
- Cytogenetically visible inversions are formed by multiple molecular mechanisms
- LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis
- Rare germline copy number variations in hereditary cutaneous melanoma
- Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast
- Infantile autism and 47,XYY karyotype
- Investigação de genes e/ou segmentos cromossômicos em pacientes com obesidade sindrômica: deleção distal 3p
Informações sobre o DOI: 10.1111/jir.12891 (Fonte: oaDOI API)
Download do texto completo
| Tipo | Nome | Link | |
|---|---|---|---|
 |
3174595.pdf |
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
